763529005: Distal monosomy 7q36 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal monosomy 7q36 syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36 syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36 syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36 syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36 syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal monosomy 7q36 syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642748017	Distal deletion 7q36	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642749013	Distal monosomy 7q36 syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642750013	Distal monosomy 7q36 syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642751012	Distal monosomy 7q36	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404089017	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404090014	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterised by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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