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43420005: 9q partial monosomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
72429010 9q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4531521000241114 monosomie partielle 9q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
9q partial monosomy syndrome Is a Anomaly of chromosome pair 9 false Inferred relationship Some
9q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
9q partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
9q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
9q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
9q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
9q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some
9q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
9q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
9q partial monosomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
9q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
9q partial monosomy syndrome Finding site Chromosome pair 9 true Inferred relationship Some 1
9q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
9q partial monosomy syndrome Finding site Chromosome pair 9 true Inferred relationship Some 2
9q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Some 1
9q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
9q partial monosomy syndrome Is a Deletion of part of chromosome 9 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. Is a True 9q partial monosomy syndrome Inferred relationship Some
9q22.3 deletion syndrome Is a False 9q partial monosomy syndrome Inferred relationship Some
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Is a True 9q partial monosomy syndrome Inferred relationship Some
9q34 deletion syndrome (disorder) Is a True 9q partial monosomy syndrome Inferred relationship Some
Distal deletion of long arm of chromosome 9 (disorder) Is a True 9q partial monosomy syndrome Inferred relationship Some
Medial deletion of long arm of chromosome 9 (disorder) Is a True 9q partial monosomy syndrome Inferred relationship Some
Proximal deletion of long arm of chromosome 9 (disorder) Is a True 9q partial monosomy syndrome Inferred relationship Some
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. Is a True 9q partial monosomy syndrome Inferred relationship Some
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. Is a True 9q partial monosomy syndrome Inferred relationship Some

This concept is not in any reference sets

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