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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
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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital contractural arachnodactyly Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 2
à l'examen : arachnodactylie des mains Associated morphology False Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Dolichocephalic dwarfism (disorder) Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Harrod syndrome Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 3
Long narrow head (disorder) Associated morphology True Abnormally long and slender growth Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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