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\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 (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\Developmental hereditary disorder\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

3723394018 Bainbridge Roppers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (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

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

956121000172115 syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1008961000172110 syndrome de Bainbridge-Roppers fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

906521000172119 ernstige voedingsproblemen, groeifalen, microcefalie door ASXL3-deficiëntiesyndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

992251000172114 syndroom van Bainbridge-Roppers nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
3723394018	Bainbridge Roppers syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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
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
956121000172115	syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1008961000172110	syndrome de Bainbridge-Roppers	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
906521000172119	ernstige voedingsproblemen, groeifalen, microcefalie door ASXL3-deficiëntiesyndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
992251000172114	syndroom van Bainbridge-Roppers	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)