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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
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

28 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectrodactyly Is a Phocomelia false Inferred relationship Some
Ectrodactyly Associated morphology anomalie du développement false Inferred relationship Some
Ectrodactyly Finding site Musculoskeletal structure of limb false Inferred relationship Some
Ectrodactyly Associated morphology Congenital partial absence false Inferred relationship Some 1
Ectrodactyly Finding site Digit structure false Inferred relationship Some 1
Ectrodactyly Occurrence Congenital false Inferred relationship Some
Ectrodactyly Is a Disorder of digit false Inferred relationship Some
Ectrodactyly Is a Congenital anomaly of limb false Inferred relationship Some
Ectrodactyly Is a Congenital malformation false Inferred relationship Some
Ectrodactyly Is a Congenital complete absence of limb false Inferred relationship Some
Ectrodactyly Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Ectrodactyly Is a Perodactylia false Inferred relationship Some
Ectrodactyly Is a Partial congenital absence of limb false Inferred relationship Some
Ectrodactyly Associated morphology Congenital partial absence false Inferred relationship Some 1
Ectrodactyly Finding site Digit structure false Inferred relationship Some 3
Ectrodactyly Occurrence Congenital false Inferred relationship Some 3
Ectrodactyly Associated morphology anomalie du développement false Inferred relationship Some 2
Ectrodactyly Finding site Limb structure false Inferred relationship Some 2
Ectrodactyly Is a Disorder of digit false Inferred relationship Some
Ectrodactyly Is a Congenital anomaly of limb false Inferred relationship Some
Ectrodactyly Occurrence Congenital true Inferred relationship Some 1
Ectrodactyly Associated morphology Congenital absence false Inferred relationship Some 1
Ectrodactyly Is a Adactyly true Inferred relationship Some
Ectrodactyly Associated morphology Congenital absence false Inferred relationship Some 3
Ectrodactyly Finding site Entire digit true Inferred relationship Some 1
Ectrodactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectrodactyly Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a True Ectrodactyly Inferred relationship Some
Split foot Is a True Ectrodactyly Inferred relationship Some
Partial aphalangia of upper limb Is a False Ectrodactyly Inferred relationship Some
Congenital cleft hand Is a True Ectrodactyly Inferred relationship Some
Partial aphalangia of lower limb Is a False Ectrodactyly Inferred relationship Some
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a True Ectrodactyly Inferred relationship Some
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 Inferred relationship Some
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 Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Is a True Ectrodactyly Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Is a True Ectrodactyly Inferred relationship Some
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Is a True Ectrodactyly Inferred relationship Some
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Is a True Ectrodactyly Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized 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 Inferred relationship Some
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. Is a True Ectrodactyly Inferred relationship Some

This concept is not in any reference sets

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