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788144009: Abnormally long and slender growth (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3779277012 Abnormally long and slender growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779278019 Abnormally long and slender growth (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormally long and slender growth Is a Abnormally long growth (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital contractural arachnodactyly Associated morphology True Abnormally long and slender growth Inferred relationship Some 2
à l'examen : arachnodactylie des mains Associated morphology False Abnormally long and slender growth Inferred relationship Some 1
Dolichocephalic dwarfism Associated morphology True Abnormally long and slender growth Inferred relationship Some 2
Arachnodactyly Associated morphology True Abnormally long and slender growth Inferred relationship Some 1
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Associated morphology True Abnormally long and slender growth Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Associated morphology True Abnormally long and slender growth Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Associated morphology True Abnormally long and slender growth Inferred relationship Some 3
Long narrow head Associated morphology True Abnormally long and slender growth Inferred relationship Some 2

This concept is not in any reference sets

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