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733072002: Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498678018 Stimmler syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3498679014 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498680012 Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Enamel hypoplasia true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Diabetes mellitus true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Congenital anomaly of tooth false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Structure of endocrine system false Inferred relationship Existential restriction modifier 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Enamel structure false Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Enamel structure true Inferred relationship Existential restriction modifier 2
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Structure of endocrine system false Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 2
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Structure of endocrine system true Inferred relationship Existential restriction modifier 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 6
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 6
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a Amelogenesis imperfecta true Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 7
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 7
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 8
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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