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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
3424252017 A very rare syndrome that presents with short and sparse scalp hair from birth or the first months of life with no subsequent growth during life. During the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. Inherited in an autosomal recessive pattern. 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) 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) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure true Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Genodermatosis false Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Congenital ectodermal defect false Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Congenital hypotrichia (disorder) true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) Degenerative disorder of macula (disorder) true Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 5
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure false Inferred relationship Some 5
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Hypotrichosis with juvenile macular degeneration syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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