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

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
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
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
3438901001000119 Bainbridge-Ropers-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956121000172115 syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008961000172110 syndrome de Bainbridge-Roppers fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956121000172115 syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008961000172110 syndrome de Bainbridge-Roppers fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438901001000119 Bainbridge-Ropers-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 false Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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