367520004: incontinentia pigmenti (aandoening)

\Genetic disorder of nail (disorder)\Incontinentia pigmenti syndrome

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

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Incontinentia pigmenti syndrome
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Incontinentia pigmenti 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
Incontinentia pigmenti syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Incontinentia pigmenti syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Incontinentia pigmenti syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Incontinentia pigmenti syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	Ectodermal dysplasia with hair-tooth-nail defects	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Incontinentia pigmenti syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Incontinentia pigmenti syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	3
Incontinentia pigmenti syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Incontinentia pigmenti syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Incontinentia pigmenti syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Incontinentia pigmenti syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	4
Incontinentia pigmenti syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Incontinentia pigmenti syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
492592018	Incontinentia pigmenti syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777035019	Incontinentia pigmenti syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1490800010	IP - Incontinentia pigmenti	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1490801014	Incontinentia pigmenti of Bloch-Sulzberger	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1490802019	Bloch-Sulzberger syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2164874016	Bloch-Siemens syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
385641000146116	syndroom van Bloch-Sulzberger	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
385651000146118	incontinentia pigmenti	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
385661000146115	incontinentia pigmenti (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)