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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Functional finding\Cognitive function 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\Hereditary disease\Developmental hereditary disorder\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\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\Developmental hereditary disorder\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3723394018	Bainbridge Roppers syndrome	en	Synonym	Active	Case sensitive	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	Initial character case insensitive	SNOMED CT core
3723410013	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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