FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
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
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
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
3434081001000118 Mikrozephalie - Glomerulonephritis - marfanoider Habitus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Marfanoid physique (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Congenital nephritis true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Hereditary nephritis true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Interprets Physique type (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start