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702437000: Amish lethal microcephaly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Amish lethal microcephaly (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Amish lethal microcephaly (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Amish lethal microcephaly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Amish lethal microcephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amish lethal microcephaly (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Finding site	Entire brain	false	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Amish lethal microcephaly (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Amish lethal microcephaly (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Amish lethal microcephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995344014	Amish lethal microcephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995431017	Amish microcephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995660016	Amish lethal microcephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3699481000052112	letal mikrocefali av Amish-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)