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782755007: Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3755628017 Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3755629013 Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3755630015 A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Finding site Brain structure false Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a microcéphalie false Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Diabetes mellitus associated with genetic syndrome false Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Mild intellectual disability (disorder) true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Due to Genetic disease false Inferred relationship Some 3
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 2
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 3
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Secondary diabetes mellitus true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Finding site Head structure true Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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