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Terminology chevron_right Concepts chevron_right 719944006

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Component

719944006

The component that hold information about this concept.

Fully Specified Name (FSN)

Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

Shortest Term

Oliver mcfarlane syndrome

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

SCTID: 719944006, Primitive, Active

719944006|Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)|

en Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
en Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
en Oliver mcfarlane syndrome

Expression

719944006 |Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)|
 <<< 8654005 |Ectodermal dysplasia (disorder)| + 
65033000 |Congenital anomaly of hair (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
91158006 |Congenital anomaly of eyelid (disorder)| + 
95695004 |Degeneration of retina (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
430960001 |Deformity of eyelid (disorder)| + 
49381001 |Congenital anomaly of retina (disorder)| + 
398206004 |Congenital deformity of face (disorder)| + 
267808001 |Disorder of hair growth (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
673791000119108 |Congenital deformity of soft tissue (disorder)| + 
1145091001 |Eyelash finding (finding)| + 
896826009 |Structural abnormality of eyelash (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 67946009 |Abnormally long growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 367575006 |Entire eyelashes (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 40299004 |Pigmentary degeneration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3318545013 - Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (en) View
3318545013	en	Synonym (core metadata concept)	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3318544012 - Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) (en) View
3318544012	en	Fully specified name (core metadata concept)	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3318546014 - Oliver McFarlane syndrome (en) View
3318546014	en	Synonym (core metadata concept)	Oliver McFarlane syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16378726028) - 719944006 -> 896826009 (116680003) View
116680003 \|Is a (attribute)\|	896826009 \|Structural abnormality of eyelash (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16269818023) - 719944006 -> 1145091001 (116680003) View
116680003 \|Is a (attribute)\|	1145091001 \|Eyelash finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15054770021) - 719944006 -> 673791000119108 (116680003) View
116680003 \|Is a (attribute)\|	673791000119108 \|Congenital deformity of soft tissue (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069195027) - 719944006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280508028) - 719944006 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644577021) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645776020) - 719944006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531222023) - 719944006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531229025) - 719944006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10549287026) - 719944006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226195026) - 719944006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644580022) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644583024) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644586027) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645775024) - 719944006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645777027) - 719944006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6645778021) - 719944006 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646367023) - 719944006 -> 40299004 (116676008) View
116676008 \|Associated morphology (attribute)\|	40299004 \|Pigmentary degeneration (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646368029) - 719944006 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646369021) - 719944006 -> 67946009 (116676008) View
116676008 \|Associated morphology (attribute)\|	67946009 \|Abnormally long growth (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646370022) - 719944006 -> 367575006 (363698007) View
363698007 \|Finding site (attribute)\|	367575006 \|Entire eyelashes (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531216025) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531218029) - 719944006 -> 367575006 (363698007) View
363698007 \|Finding site (attribute)\|	367575006 \|Entire eyelashes (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531219021) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531221027) - 719944006 -> 67946009 (116676008) View
116676008 \|Associated morphology (attribute)\|	67946009 \|Abnormally long growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531223029) - 719944006 -> 49381001 (116680003) View
116680003 \|Is a (attribute)\|	49381001 \|Congenital anomaly of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531225020) - 719944006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531226021) - 719944006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531227028) - 719944006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531228022) - 719944006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549286024) - 719944006 -> 40299004 (116676008) View
116676008 \|Associated morphology (attribute)\|	40299004 \|Pigmentary degeneration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549288020) - 719944006 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549289028) - 719944006 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105635026) - 719944006 -> 398206004 (116680003) View
116680003 \|Is a (attribute)\|	398206004 \|Congenital deformity of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11120722022) - 719944006 -> 267808001 (116680003) View
116680003 \|Is a (attribute)\|	267808001 \|Disorder of hair growth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644567024) - 719944006 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644568025) - 719944006 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644569022) - 719944006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644570023) - 719944006 -> 91158006 (116680003) View
116680003 \|Is a (attribute)\|	91158006 \|Congenital anomaly of eyelid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644571022) - 719944006 -> 95695004 (116680003) View
116680003 \|Is a (attribute)\|	95695004 \|Degeneration of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644572026) - 719944006 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644573020) - 719944006 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644574025) - 719944006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644575029) - 719944006 -> 430960001 (116680003) View
116680003 \|Is a (attribute)\|	430960001 \|Deformity of eyelid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
896826009 View
896826009	Structural abnormality of eyelash (disorder)	Abnormal eyelash morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1145091001 View
1145091001	Eyelash finding (finding)	Eyelash finding	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
673791000119108 View
673791000119108	Congenital deformity of soft tissue (disorder)	Congenital deformity of soft tissue	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
267808001 View
267808001	Disorder of hair growth (disorder)	Disorder of hair growth	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8654005 View
8654005	Ectodermal dysplasia (disorder)	Ectodermal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
430960001 View
430960001	Deformity of eyelid (disorder)	Eyelid deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
398206004 View
398206004	Congenital deformity of face (disorder)	Congenital deformity of face	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65033000 View
65033000	Congenital anomaly of hair (disorder)	Congenital anomaly of hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
49381001 View
49381001	Congenital anomaly of retina (disorder)	Congenital anomaly of retina	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
91158006 View
91158006	Congenital anomaly of eyelid (disorder)	Congenital eyelid deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95695004 View
95695004	Degeneration of retina (disorder)	Retinal degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (073b457b-ee2d-5b13-b938-ddde23e6565c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (67942caa-67bc-506c-a1d0-f3abfcbeb818) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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