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733472005: Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5403801012 A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403802017 A rare intellectual disability syndrome characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499507014 Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499508016 Microcephalus, glomerulonephritis, marfanoid habitus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
949311000172118 syndrome de Houlston-Iraggori-Murday fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434081001000118 Mikrozephalie - Glomerulonephritis - marfanoider Habitus 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
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a microcéphalie false Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Congenital anomaly of brain false Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Multiple system malformation syndrome true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a retard mental false Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Marfanoid physique true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Congenital nephritis true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Hereditary disorder of nervous system false Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Hereditary nephritis (disorder) true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Interprets Physique type true Inferred relationship Some 3
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence Congenital false Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence Congenital false Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology inflammation chronique false Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Finding site Glomerulus structure false Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology Congenital smallness false Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Finding site Brain structure false Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Intellectual disability false Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence Congenital true Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Finding site Glomerulus structure true Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology Congenital smallness false Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology inflammation chronique false Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Congenital anomaly of the kidney (disorder) true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Finding site Brain structure false Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence Congenital true Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Developmental hereditary disorder true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Finding site Head structure true Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Has interpretation Below reference range true Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Interprets Birth head circumference true Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. true Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Interprets Intellectual ability true Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Has interpretation Impaired true Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Has interpretation Impaired true Inferred relationship Some 6
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a Genetic intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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