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719377004: Microcephalus with albinism and digital anomaly syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315655018 Microcephalus with albinism and digital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3315656017 Microcephalus with albinism and digital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3316139015 Microcephaly with albinism and digital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3316140018 Castro Gago Pombo Novo syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus with albinism and digital anomaly syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Oculocutaneous albinism true Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Congenital anomaly of jaw true Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a Congenital anomaly of digit true Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 10
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 11
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 12
Microcephalus with albinism and digital anomaly syndrome Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier 10
Microcephalus with albinism and digital anomaly syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 7
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Microcephalus with albinism and digital anomaly syndrome Finding site Jaw region structure false Inferred relationship Existential restriction modifier 7
Microcephalus with albinism and digital anomaly syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 8
Microcephalus with albinism and digital anomaly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 8
Microcephalus with albinism and digital anomaly syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 9
Microcephalus with albinism and digital anomaly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier 9
Microcephalus with albinism and digital anomaly syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 11
Microcephalus with albinism and digital anomaly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 11
Microcephalus with albinism and digital anomaly syndrome Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier 8
Microcephalus with albinism and digital anomaly syndrome Finding site Structure of eye proper false Inferred relationship Existential restriction modifier 8
Microcephalus with albinism and digital anomaly syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier 12
Microcephalus with albinism and digital anomaly syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 12
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Finding site Structure of eye proper true Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Finding site Structure of eye proper false Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Microcephalus with albinism and digital anomaly syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Finding site Jaw region structure true Inferred relationship Existential restriction modifier 1
Microcephalus with albinism and digital anomaly syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 2
Microcephalus with albinism and digital anomaly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier 3
Microcephalus with albinism and digital anomaly syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 2
Microcephalus with albinism and digital anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Microcephalus with albinism and digital anomaly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier 5
Microcephalus with albinism and digital anomaly syndrome Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 6
Microcephalus with albinism and digital anomaly syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 6
Microcephalus with albinism and digital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Microcephalus with albinism and digital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Microcephalus with albinism and digital anomaly syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 7
Microcephalus with albinism and digital anomaly syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 7
Microcephalus with albinism and digital anomaly syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 2
Microcephalus with albinism and digital anomaly syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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