773400009: Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Genetic disease\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723393012	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723409015	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723410013	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5390944014	Bainbridge Ropers syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723411012	A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start