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771335004: Ectodermal dysplasia syndactyly syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3705806014 Ectodermal dysplasia syndactyly syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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