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81208006: Ectrodactyly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
134737014 Ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
822454015 Ectrodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2773989014 Lobster claw deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
134737014 Ectrodactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
134737014 Ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
822454015 Ectrodactyly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
822454015 Ectrodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2773989014 Lobster claw deformity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2773989014 Lobster claw deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1057241000195115 Isolierte Spalthand-Spaltfuss-Fehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4655691000241118 ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4655691000241118 ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1057241000195115 Isolierte Spalthand-Spaltfuss-Fehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454041001000110 Isolierte Spalthand-Spaltfuß-Fehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

28 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectrodactyly (disorder) Is a Phocomelia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Disorder of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Congenital complete absence of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Congenital anomaly of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Perodactylia false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Partial congenital absence of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectrodactyly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectrodactyly (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectrodactyly (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectrodactyly (disorder) Is a Disorder of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Is a Adactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectrodactyly (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Split foot Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial aphalangia of upper limb Is a False Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cleft hand Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial aphalangia of lower limb (disorder) Is a False Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Is a True Ectrodactyly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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