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771335004: Ectodermal dysplasia syndactyly syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3705805013 Ectodermal dysplasia syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705806014 Ectodermal dysplasia syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705807017 A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705805013 Ectodermal dysplasia syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705806014 Ectodermal dysplasia syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705807017 A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418681001000110 Ektodermale Dysplasie-Syndaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931811000172111 EDSS - ectodermal dysplasia, syndactyly syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1016441000172115 syndrome de dysplasie ectodermique-syndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931811000172111 EDSS - ectodermal dysplasia, syndactyly syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1016441000172115 syndrome de dysplasie ectodermique-syndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418681001000110 Ektodermale Dysplasie-Syndaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia syndactyly syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia syndactyly syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia syndactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a Congenital alopecia true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia syndactyly syndrome Is a Syndactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia syndactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia syndactyly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia syndactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia syndactyly syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia syndactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia syndactyly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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