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733472005: syndrome de Houlston-Iraggori-Murday (trouble)


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
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
763151000241114 syndrome de Houlston-Iraggori-Murday (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
949311000172118 syndrome de Houlston-Iraggori-Murday fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3500012019 Syndrome with characteristics of intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. It has been described in two sisters. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) localisation d'une constatation (attribut) Glomerulus structure true Inferred relationship Some 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) Chronic inflammation true Inferred relationship Some 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Marfanoid physique true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Congenital nephritis true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Hereditary nephritis (disorder) true Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) interprète (attribut) Physique type true Inferred relationship Some 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) Chronic inflammation false Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) localisation d'une constatation (attribut) Glomerulus structure false Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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