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275348004: Adactyly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
411315014 Adactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
668207011 Adactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6002791000241113 adactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

164 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adactyly Is a Congenital anomaly of limb false Inferred relationship Some
Adactyly Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Some
Adactyly Associated morphology anomalie du développement false Inferred relationship Some
Adactyly Occurrence Congenital false Inferred relationship Some
Adactyly Is a Disorder of digit false Inferred relationship Some
Adactyly Associated morphology Congenital absence false Inferred relationship Some 1
Adactyly Finding site Digit structure false Inferred relationship Some 1
Adactyly Is a Congenital malformation false Inferred relationship Some
Adactyly Is a Congenital complete absence of limb false Inferred relationship Some
Adactyly Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Adactyly Is a Perodactylia false Inferred relationship Some
Adactyly Associated morphology Congenital absence false Inferred relationship Some 1
Adactyly Finding site Digit structure true Inferred relationship Some 1
Adactyly Occurrence Congenital false Inferred relationship Some 2
Adactyly Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Adactyly Associated morphology Congenital absence false Inferred relationship Some 2
Adactyly Finding site Digit structure false Inferred relationship Some 2
Adactyly Is a Partial congenital absence of limb true Inferred relationship Some
Adactyly Occurrence Congenital true Inferred relationship Some 1
Adactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Adactyly Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Aglossia-adactyly syndrome Is a True Adactyly Inferred relationship Some
Congenital absence of digits NOS Is a False Adactyly Inferred relationship Some
Congenital absence of thumb Is a True Adactyly Inferred relationship Some
Congenital absence of finger Is a True Adactyly Inferred relationship Some
Congenital absence of toe Is a True Adactyly Inferred relationship Some
Ectrodactyly Is a True Adactyly Inferred relationship Some
Partial aphalangia of upper limb Is a True Adactyly Inferred relationship Some
Anonychia (disorder) Is a True Adactyly Inferred relationship Some
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Is a True Adactyly Inferred relationship Some
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Is a True Adactyly Inferred relationship Some
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. Is a True Adactyly 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 False Adactyly 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 False Adactyly Inferred relationship Some
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Is a False Adactyly 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 False Adactyly 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 False Adactyly 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 False Adactyly 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 False Adactyly Inferred relationship Some
Transverse deficiency of toe Is a False Adactyly Inferred relationship Some
Congenital absence of great toe Is a False Adactyly Inferred relationship Some
Congenital absence of fifth toe Is a False Adactyly Inferred relationship Some
Partial aphalangia of lower limb Is a False Adactyly Inferred relationship Some
Congenital absence of multiple toes Is a False Adactyly Inferred relationship Some
Complete aphalangia of lower limb Is a False Adactyly Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a False Adactyly Inferred relationship Some
Complete aphalangia of upper limb Is a False Adactyly Inferred relationship Some
Congenital absence of all bilateral toes Is a False Adactyly Inferred relationship Some
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Is a True Adactyly Inferred relationship Some
Agenesis of epiphysis of phalanx of toe (disorder) Is a True Adactyly Inferred relationship Some
Aplasia of phalanx of hand Is a True Adactyly Inferred relationship Some

This concept is not in any reference sets

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