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723364003: Hypotrichosis with juvenile macular degeneration syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424248017 Hypotrichosis with juvenile macular degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424249013 Hypotrichosis with juvenile macular degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424250013 HJMD (hypotrichosis, juvenile macular degeneration) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403018012 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403019016 Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterised by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Congenital hypotrichia true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Degenerative disorder of macula (disorder) true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 5
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Macula lutea structure false Inferred relationship Some 5
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Macula lutea structure true Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Genodermatosis false Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Congenital ectodermal defect false Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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