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Component

93235007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital hypoplasia of adrenal gland (disorder)

Shortest Term

Congenital adrenal hypoplasia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Congenital hypoplasia of adrenal gland (disorder)

SCTID: 93235007, Defined, Active

93235007|Congenital hypoplasia of adrenal gland (disorder)|

en Congenital adrenal hypoplasia
en Congenital hypoplasia of adrenal gland
en Congenital hypoplasia of adrenal gland (disorder)
en Congenital small adrenal gland
en Cah - congenital adrenal hypoplasia

Expression

93235007 |Congenital hypoplasia of adrenal gland (disorder)|
 === 60637003 |Congenital anomaly of adrenal gland (disorder)| + 
386584007 |Adrenal cortical hypofunction (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68594002 |Adrenal cortex structure (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
510260012 - Congenital adrenal hypoplasia (en) View
510260012	en	Synonym (core metadata concept)	Congenital adrenal hypoplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
154259018 - Congenital hypoplasia of adrenal gland (en) View
154259018	en	Synonym (core metadata concept)	Congenital hypoplasia of adrenal gland	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
836926011 - Congenital hypoplasia of adrenal gland (disorder) (en) View
836926011	en	Fully specified name (core metadata concept)	Congenital hypoplasia of adrenal gland (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
154260011 - Congenital small adrenal gland (en) View
154260011	en	Synonym (core metadata concept)	Congenital small adrenal gland	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
510261011 - CAH - Congenital adrenal hypoplasia (en) View
510261011	en	Synonym (core metadata concept)	CAH - Congenital adrenal hypoplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (915073028) - 93235007 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4972070024) - 93235007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5002738024) - 93235007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5002739027) - 93235007 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6092951029) - 93235007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6092952020) - 93235007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525176026) - 93235007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (915077027) - 93235007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2233063024) - 93235007 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3428239028) - 93235007 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3428240026) - 93235007 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (915076020) - 93235007 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739631026) - 93235007 -> 23451007 (363698007) View
363698007 \|Finding site (attribute)\|	23451007 \|Adrenal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1686328020) - 93235007 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (301829023) - 93235007 -> 68588005 (116680003) View
116680003 \|Is a (attribute)\|	68588005 \|Adrenal cortical hypofunction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (915075024) - 93235007 -> 23451007 (363698007) View
363698007 \|Finding site (attribute)\|	23451007 \|Adrenal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2049255022) - 93235007 -> 386584007 (116680003) View
116680003 \|Is a (attribute)\|	386584007 \|Adrenal cortical hypofunction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (915074023) - 93235007 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (301830029) - 93235007 -> 60637003 (116680003) View
116680003 \|Is a (attribute)\|	60637003 \|Congenital anomaly of adrenal gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
386584007 View
386584007	Adrenal cortical hypofunction (disorder)	Hypoadrenocorticism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60637003 View
60637003	Congenital anomaly of adrenal gland (disorder)	Congenital anomaly of adrenal gland	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1295529002 View
1295529002	Xp21 deletion syndrome (disorder)	Xp21 deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1234831009 View
1234831009	Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	Mirage syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187040004 View
1187040004	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782917007 View
782917007	Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Familial adrenal hypoplasia miniature type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764960005 View
764960005	Inherited isolated adrenal insufficiency due to partial cytochrome p450 family 11 subfamily a member 1 deficiency (disorder)	Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237764004 View
237764004	Congenital adrenal hypoplasia, x-linked (disorder)	Congenital adrenal hypoplasia, x-linked	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37495007 View
37495007	Familial adrenocortical hypoplasia (disorder)	Familial addison disease	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 (3b5501ba-3b63-506a-ab93-39583c750679) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q89.1	TRUE	ALWAYS Q89.1	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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