723411003: Nasopalpebral lipoma coloboma syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mass of body structure\Mass of body region\Mass of head and/or neck\...

\Mass of head\Neoplasm of head\...

\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome

\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome

\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Neoplasm of head AND/OR neck\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome

\Finding of head and neck region\Head finding\Mass of head\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Mass of head\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Mass of head\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Lesion of face\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Lesion of face\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Mass of head\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Mass of head\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Mass of head\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Finding of head and neck region\Mass of head and/or neck\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Nasopalpebral lipoma coloboma syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Nasopalpebral lipoma coloboma syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Nasopalpebral lipoma coloboma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Benign tumour of head and neck\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of head AND/OR neck\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Lipomatous tumour\Benign lipomatous tumour\Lipoma\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign tumour of head and neck\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign tumour of head and neck\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign tumour of head and neck\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign lipomatous tumour\Lipoma\Lipoma of head and neck\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Neoplasm of head\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Neoplasm of head\Benign neoplasm of head\Lipoma of head\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Neoplasm of head\Benign neoplasm of head\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Neoplasm of face\Benign neoplasm of face\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Nasopalpebral lipoma coloboma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Nasopalpebral lipoma coloboma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Nasopalpebral lipoma coloboma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Coloboma of eyelid\Nasopalpebral lipoma coloboma syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498159019 Nasopalpebral lipoma coloboma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498160012 Nasopalpebral lipoma coloboma syndrome en Synonym Active Case insensitive SNOMED CT core

3499901018 Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nasopalpebral lipoma coloboma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Nasopalpebral lipoma coloboma syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Nasopalpebral lipoma coloboma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Nasopalpebral lipoma coloboma syndrome	Associated morphology	Lipoma	true	Inferred relationship	Some	1
Nasopalpebral lipoma coloboma syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Nasopalpebral lipoma coloboma syndrome	Is a	Lipoma of head	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Benign neoplasm of face	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Coloboma of eyelid	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Lipoma of head and neck	false	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Nasopalpebral lipoma coloboma syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Nasopalpebral lipoma coloboma syndrome	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Nasopalpebral lipoma coloboma syndrome	Associated morphology	Lipoma	false	Inferred relationship	Some	3
Nasopalpebral lipoma coloboma syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Nasopalpebral lipoma coloboma syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498159019	Nasopalpebral lipoma coloboma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498160012	Nasopalpebral lipoma coloboma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499901018	Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core