205548006: harlekijnichtyose (aandoening)

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

\Deformity (finding)\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Deformity (finding)\Deformity of tissue\Congenital deformity of soft tissue\Congenital ectropion of lip\Harlequin ichthyosis
\Deformity (finding)\Congenital deformity\Congenital deformity of soft tissue\Congenital ectropion of lip\Harlequin ichthyosis
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Congenital ectropion of lip\Harlequin ichthyosis
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Congenital ectropion\Harlequin ichthyosis

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

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis

\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Lip finding\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Lip finding\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis

\General finding of soft tissue\Lip finding\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Congenital ectropion of lip\Harlequin ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Congenital ectropion of lip\Harlequin ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Ectropion\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Harlequin ichthyosis
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ectropion\Harlequin ichthyosis

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Harlequin ichthyosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315210011 Harlequin ichthyosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

590932010 Harlequin ichthyosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

6476821000146116 harlekijnichtyose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6476831000146119 harlekijnichtyose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Harlequin ichthyosis	Is a	Congenital ichthyosis of skin	false	Inferred relationship	Some
Harlequin ichthyosis	Occurrence	Congenital	false	Inferred relationship	Some
Harlequin ichthyosis	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Harlequin ichthyosis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Harlequin ichthyosis	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Harlequin ichthyosis	Associated morphology	Plaque	false	Inferred relationship	Some	1
Harlequin ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Harlequin ichthyosis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Harlequin ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Harlequin ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Harlequin ichthyosis	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Harlequin ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Harlequin ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Harlequin ichthyosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Harlequin ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Harlequin ichthyosis	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Harlequin ichthyosis	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Harlequin ichthyosis	Associated morphology	Eversion	true	Inferred relationship	Some	3
Harlequin ichthyosis	Is a	Congenital ectropion of lip	true	Inferred relationship	Some
Harlequin ichthyosis	Is a	Autosomal recessive ichthyosis (disorder)	true	Inferred relationship	Some
Harlequin ichthyosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Harlequin ichthyosis	Is a	Congenital structural abnormality of eyelid	false	Inferred relationship	Some
Harlequin ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Harlequin ichthyosis	Is a	Ectropion	false	Inferred relationship	Some
Harlequin ichthyosis	Associated morphology	Eversion	true	Inferred relationship	Some	2
Harlequin ichthyosis	Finding site	Eyelid structure	true	Inferred relationship	Some	3
Harlequin ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Harlequin ichthyosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Harlequin ichthyosis	Finding site	Lip structure	true	Inferred relationship	Some	2
Harlequin ichthyosis	Interprets	Keratinization	true	Inferred relationship	Some	4
Harlequin ichthyosis	Is a	Congenital ectropion	true	Inferred relationship	Some
Harlequin ichthyosis	Finding site	Entire skin	true	Inferred relationship	Some	1

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
315210011	Harlequin ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
590932010	Harlequin ichthyosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6476821000146116	harlekijnichtyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6476831000146119	harlekijnichtyose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)