239028001: Odontotrichomelic syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Finding of sweating\Ectodermal dysplasia with sweating defect\...

\Ectodermal syndrome with hair-sweating defects (disorder)\Ectodermal syndrome with hair-tooth-sweating defects (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Ectodermal dysplasia with tooth-sweating defect\Ectodermal syndrome with hair-tooth-sweating defects (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome
\Ectodermal dysplasia with tooth-sweating defect\Ectodermal dysplasia with tooth-nail-sweating defect (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Hair finding\Disorder of hair\Congenital anomaly of hair\...

\Ectodermal syndrome with hair-sweating defects (disorder)\Ectodermal syndrome with hair-tooth-sweating defects (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Ectodermal dysplasia with hair-tooth defects\Ectodermal syndrome with hair-tooth-sweating defects (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome
\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Odontotrichomelic syndrome

\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\...

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with tooth-nail-sweating defect (disorder)\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome
\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail-sweating defect\Odontotrichomelic syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Odontotrichomelic syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	false	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Optic atrophy	false	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Odontotrichomelic syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Odontotrichomelic syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Odontotrichomelic syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Odontotrichomelic syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Odontotrichomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Odontotrichomelic syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Odontotrichomelic syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Odontotrichomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Odontotrichomelic syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Odontotrichomelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Odontotrichomelic syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Odontotrichomelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Odontotrichomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Odontotrichomelic syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Odontotrichomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Odontotrichomelic syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Odontotrichomelic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Odontotrichomelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Odontotrichomelic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Odontotrichomelic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Odontotrichomelic syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Odontotrichomelic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Odontotrichomelic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Odontotrichomelic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Odontotrichomelic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Odontotrichomelic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Odontotrichomelic syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	4
Odontotrichomelic syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Odontotrichomelic syndrome	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	5
Odontotrichomelic syndrome	Is a	Ectodermal dysplasia with hair-tooth-nail-sweating defect	true	Inferred relationship	Some
Odontotrichomelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Odontotrichomelic syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	5
Odontotrichomelic syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Odontotrichomelic syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	2
Odontotrichomelic syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358208012	Odontotrichomelic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627989015	Odontotrichomelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3793255011	Freire-Maia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
901181000172115	syndrome odonto-trichomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
993851000172117	syndrome de Freire-Maia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module