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371169004: Partial monosomy (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 14q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of short arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial deletion of short arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
5p partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion 5q35 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
5q22.2 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of autosome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11 partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11 partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p12.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p11.2p12.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Choroideremia with deafness and obesity syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Choroideremia with deafness and obesity syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 7p syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
7p12-p14 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
7p21.1 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial chromosome Y deletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
3q29 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 6p (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
6p22 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
6p22 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 17q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 17 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q12 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
12q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 12q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 15q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
15q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
15q13.3 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
15q13.3 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
15q24 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
15q24 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
16q24.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 16p11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome 16p11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q23.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p21 microdeletion syndrome without cystinuria (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p13.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2

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