18899000: Schinzel-Giedion syndrome (disorder)

\Genetic disorder of nail (disorder)\Schinzel-Giedion syndrome

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

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Schinzel-Giedion syndrome

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Schinzel-Giedion syndrome

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
Schinzel-Giedion syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Is a	Ectodermal dysplasia with hair-tooth-nail defects	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schinzel-Giedion syndrome	Finding site	Nail unit structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schinzel-Giedion syndrome	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Schinzel-Giedion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Schinzel-Giedion syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Schinzel-Giedion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Schinzel-Giedion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
31861011	Schinzel-Giedion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
746511017	Schinzel-Giedion syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
31861011	Schinzel-Giedion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
746511017	Schinzel-Giedion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
746511017	Schinzel-Giedion syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3417961001000113	Schinzel-Giedion-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886941000172110	syndrome de Schinzel-Giedion	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996211000172112	SGS - Schinzel-Giedion syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886941000172110	syndrome de Schinzel-Giedion	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996211000172112	SGS - Schinzel-Giedion syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417961001000113	Schinzel-Giedion-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module