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724350009: Hereditary hypotrichosis with recurrent skin vesicles 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
3434316014 Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434317017 Hereditary hypotrichosis with recurrent skin vesicles syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434318010 Hypotrichosis and recurrent skin vesicles en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434319019 A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12. 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
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a Congenital hypotrichia true Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a Skin lesion true Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Associated morphology Lesion (morphologic abnormality) true Inferred relationship Some 2
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 3
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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