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771335004: syndroom van ectodermale dysplasie en syndactylie (aandoening)


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
6723671000146115 syndroom van ectodermale dysplasie en syndactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723681000146118 syndroom van ectodermale dysplasie en syndactylie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6839241000146114 EDSS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6839251000146112 EDSS1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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