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253208007: Absent eyebrow (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Finding of head region\Finding of face\Forehead finding\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital malformation of the eyebrow\Absent eyebrow
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital malformation of the eyebrow\Absent eyebrow

\Eye / vision finding\Visual system disorder (disorder)\...

\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital malformation of the eyebrow\Absent eyebrow

\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital malformation of the eyebrow\Absent eyebrow

Status: current, 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
Absent eyebrow	Is a	Congenital malformation of the eyebrow	true	Inferred relationship	Some
Absent eyebrow	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Absent eyebrow	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Absent eyebrow	Occurrence	Congenital	false	Inferred relationship	Some
Absent eyebrow	Finding site	Eyebrow structure	false	Inferred relationship	Some
Absent eyebrow	Is a	Congenital anomaly of hair	false	Inferred relationship	Some
Absent eyebrow	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Absent eyebrow	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Absent eyebrow	Finding site	Eyebrow structure (body structure)	false	Inferred relationship	Some	1
Absent eyebrow	Finding site	Skin structure	false	Inferred relationship	Some	2
Absent eyebrow	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Absent eyebrow	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Absent eyebrow	Finding site	Skin structure	false	Inferred relationship	Some	2
Absent eyebrow	Finding site	Eyebrow structure (body structure)	true	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Absent eyebrow	Occurrence	Congenital	false	Inferred relationship	Some	3
Absent eyebrow	Is a	Congenital absence	false	Inferred relationship	Some
Absent eyebrow	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Absent eyebrow	Finding site	Eyebrow structure (body structure)	false	Inferred relationship	Some	3
Absent eyebrow	Occurrence	Congenital	true	Inferred relationship	Some	1
Absent eyebrow	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.	Is a	True	Absent eyebrow	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
377105017	Absent eyebrow	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643939017	Absent eyebrow (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069711000241110	sourcils absents	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
621051000274112	Augenbraue fehlt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
621061000274110	Fehlende Augenbraue	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module