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782916003: Dermotrichic syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756680018 Dermotrichic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756681019 Dermotrichic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756682014 A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756683016 A rare genetic ectodermal dysplasia syndrome characterised by skin, hair and nail anomalies (such as generalised ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. 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
Dermotrichic syndrome Occurrence Congenital true Inferred relationship Some 2
Dermotrichic syndrome Occurrence Congenital true Inferred relationship Some 1
Dermotrichic syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Dermotrichic syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dermotrichic syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dermotrichic syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Dermotrichic syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Dermotrichic syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Dermotrichic syndrome Occurrence Congenital true Inferred relationship Some 3
Dermotrichic syndrome Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Dermotrichic syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Dermotrichic syndrome Finding site Hair structure (body structure) true Inferred relationship Some 2
Dermotrichic syndrome Finding site Nail unit structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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