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Terminology chevron_right Concepts chevron_right 35484002

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Component

35484002

The component that hold information about this concept.

Fully Specified Name (FSN)

Aplasia cutis congenita (disorder)

Shortest Term

Cutis aplasia

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

Aplasia cutis congenita (disorder)

SCTID: 35484002, Primitive, Active

35484002|Aplasia cutis congenita (disorder)|

en Aplasia cutis congenita
en Aplasia cutis congenita (disorder)
en Congenital absence of skin
en Cutis aplasia
en Epitheliogenesis imperfecta
en Acc - aplasia cutis congenita

Expression

35484002 |Aplasia cutis congenita (disorder)|
 <<< 254237003 |Aplasia of skin (disorder)| + 
199879009 |Congenital anomaly of skin (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 119181002 |Skin part (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
59201011 - Aplasia cutis congenita (en) View
59201011	en	Synonym (core metadata concept)	Aplasia cutis congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
767128014 - Aplasia cutis congenita (disorder) (en) View
767128014	en	Fully specified name (core metadata concept)	Aplasia cutis congenita (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1228288018 - Congenital absence of skin (en) View
1228288018	en	Synonym (core metadata concept)	Congenital absence of skin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
59203014 - Cutis aplasia (en) View
59203014	en	Synonym (core metadata concept)	Cutis aplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
59202016 - Epitheliogenesis imperfecta (en) View
59202016	en	Synonym (core metadata concept)	Epitheliogenesis imperfecta	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1228289014 - ACC - Aplasia cutis congenita (en) View
1228289014	en	Synonym (core metadata concept)	ACC - Aplasia cutis congenita	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6029980027) - 35484002 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13186725023) - 35484002 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5042023025) - 35484002 -> 702626005 (116680003) View
116680003 \|Is a (attribute)\|	702626005 \|Congenital absence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523975025) - 35484002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4970951023) - 35484002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995299023) - 35484002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5042024020) - 35484002 -> 88456007 (116676008) View
116676008 \|Associated morphology (attribute)\|	88456007 \|Congenital partial absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5917877021) - 35484002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6029981028) - 35484002 -> 119181002 (363698007) View
363698007 \|Finding site (attribute)\|	119181002 \|Skin part (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (760556023) - 35484002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2227311028) - 35484002 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3296763020) - 35484002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3465634026) - 35484002 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (760553026) - 35484002 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2731698022) - 35484002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (760555022) - 35484002 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2546312028) - 35484002 -> 238907001 (116680003) View
116680003 \|Is a (attribute)\|	238907001 \|Site-specific disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (205691022) - 35484002 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2546313022) - 35484002 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (760554021) - 35484002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (205693020) - 35484002 -> 239106003 (116680003) View
116680003 \|Is a (attribute)\|	239106003 \|Nevi, hamartomas and developmental anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (205692026) - 35484002 -> 254237003 (116680003) View
116680003 \|Is a (attribute)\|	254237003 \|Aplasia of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
254237003 View
254237003	Aplasia of skin (disorder)	Aplasia of skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
199879009 View
199879009	Congenital anomaly of skin (disorder)	Genodermatosis, nos	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
838362006 View
838362006	Aplasia cutis congenita of limb (disorder)	Aplasia cutis congenita of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
774208009 View
774208009	Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome (disorder)	Scalp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774209001 View
774209001	Didymosis aplasticosebacea (disorder)	Didymosis aplasticosebacea	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723554006 View
723554006	Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)	Oculoectodermal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720499004 View
720499004	Aplasia cutis with myopia syndrome (disorder)	Gershoni baruch leibo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720500008 View
720500008	Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)	Bronspiegel zelnick syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403548007 View
403548007	Aplasia cutis congenita due to underlying malformation (type 4) (disorder)	Aplasia cutis congenita due to underlying malformation (type 4)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403549004 View
403549004	Aplasia cutis congenita associated with fetus papyraceus (type 5) (disorder)	Aplasia cutis congenita associated with fetus papyraceus (type 5)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403550004 View
403550004	Aplasia cutis congenita in association with epidermolysis bullosa (type 6) (disorder)	Aplasia cutis congenita in association with epidermolysis bullosa (type 6)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403551000 View
403551000	Aplasia cutis congenita due to teratogenic drug (type 7) (disorder)	Aplasia cutis congenita due to teratogenic drug (type 7)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403552007 View
403552007	Aplasia cutis congenita following intra-uterine infection (type 8) (disorder)	Aplasia cutis congenita following intra-uterine infection (type 8)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403553002 View
403553002	Aplasia cutis congenita secondary to malformation syndrome (type 9) (disorder)	Aplasia cutis congenita secondary to malformation syndrome (type 9)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403756008 View
403756008	Aplasia cutis in trisomy 13 syndrome (disorder)	Aplasia cutis in trisomy 13 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403757004 View
403757004	Aplasia cutis in chromosome 4 short-arm deletion syndrome (wolf-hirschhorn) (disorder)	Aplasia cutis in chromosome 4 short-arm deletion syndrome (wolf-hirschhorn)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403763008 View
403763008	Aplasia cutis in johanson-blizzard syndrome (disorder)	Aplasia cutis in johanson-blizzard syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
34748004 View
34748004	Adams-oliver syndrome (disorder)	Type 2 aplasia cutis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239152005 View
239152005	Congenital absence of skin on scalp (disorder)	Type 1 aplasia cutis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239153000 View
239153000	Congenital absence of skin on scalp with epidermal nevi (disorder)	Type 3 aplasia cutis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (d133b561-ec82-5dac-9699-1cfc49af59ae) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q84.8	TRUE	ALWAYS Q84.8	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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