1237577000: Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Symptomatic form of Coffin-Lowry syndrome in female carrier
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Symptomatic form of Coffin-Lowry syndrome in female carrier
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Symptomatic form of Coffin-Lowry syndrome in female carrier

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099893014	Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5099894015	Symptomatic form of Coffin-Lowry syndrome in female carrier	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5099895019	A rare X-linked syndromic intellectual disability which in symptomatic, female carriers has characteristics of a highly variable phenotype including facial dysmorphism (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start