81208006: Ectrodactyly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectrodactyly	Is a	Phocomelia	false	Inferred relationship	Some
Ectrodactyly	Associated morphology	dysgenese	false	Inferred relationship	Some
Ectrodactyly	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Ectrodactyly	Associated morphology	kongenit partiel mangel	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	Perodaktyli	false	Inferred relationship	Some
Ectrodactyly	Is a	Partial congenital absence of limb	false	Inferred relationship	Some
Ectrodactyly	Associated morphology	kongenit partiel mangel	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	dysgenese	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
A rare genetic congenital limb malformation disorder with characteristics of 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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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
1796021000005115	Ektrodaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)