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771335004: syndrome de dysplasie ectodermique-syndactylie (trouble)


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
1016441000172115 syndrome de dysplasie ectodermique-syndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
770591000241114 syndrome de dysplasie ectodermique-syndactylie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
931811000172111 EDSS - ectodermal dysplasia, syndactyly syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation 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
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 1
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 2
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 2
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 5
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de dysplasie ectodermique-syndactylie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
syndrome de dysplasie ectodermique-syndactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de dysplasie ectodermique-syndactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de dysplasie ectodermique-syndactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) dysplasie true Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie survenue (attribut) congénital true Inferred relationship Some 2
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie survenue (attribut) congénital false Inferred relationship Some 5
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 3
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Congenital anomaly of tooth (disorder) false Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Congenital alopecia true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
syndrome de dysplasie ectodermique-syndactylie survenue (attribut) congénital true Inferred relationship Some 3
syndrome de dysplasie ectodermique-syndactylie survenue (attribut) congénital true Inferred relationship Some 4
syndrome de dysplasie ectodermique-syndactylie survenue (attribut) congénital true Inferred relationship Some 1
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Syndactyly (disorder) true Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) Autosomal recessive 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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