Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
13q partial monosomy syndrome	Is a	Anomaly of chromosome pair 13	false	Inferred relationship	Some
13q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
13q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
13q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
13q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
13q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
13q partial monosomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
13q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
13q partial monosomy syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Some	2
13q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	1
13q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
13q partial monosomy syndrome	Is a	Deletion of part of chromosome 13 (disorder)	false	Inferred relationship	Some
13q partial monosomy syndrome	Is a	Deletion of long arm of chromosome 13	true	Inferred relationship	Some
13q partial monosomy syndrome	Is a	Distal deletion of chromosome 13 (disorder)	true	Inferred relationship	Some
13q partial monosomy syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
13q partial monosomy syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
13q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
13q partial monosomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
13q partial monosomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.	Is a	False	13q partial monosomy syndrome	Inferred relationship	Some
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	Is a	False	13q partial monosomy syndrome	Inferred relationship	Some
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	Is a	False	13q partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
48961019	13q partial monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
48962014	Orbeli syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
48963016	13q minus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760131013	13q partial monosomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4484261000241116	monosomie partielle 13q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module