789157007: Focal facial dermal dysplasia type I (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\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\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I

\Disease\Genetic disease\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal facial dermal dysplasia type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Focal facial dermal dysplasia type I
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Developmental disorder\Developmental hereditary disorder\Focal facial dermal dysplasia type I
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3787366016 Focal facial dermal dysplasia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3787367013 Brauer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3787368015 Focal facial dermal dysplasia type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3787369011 Focal facial dermal dysplasia 1 Brauer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3787370012 Bitemporal aplasia cutis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3787374015 FFDD type 1 - focal facial dermal dysplasia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3787373014 Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Focal facial dermal dysplasia type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Is a	Focal facial dermal dysplasia (disorder)	true	Inferred relationship	Some
Focal facial dermal dysplasia type I	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Focal facial dermal dysplasia type I	Occurrence	Congenital	true	Inferred relationship	Some	2
Focal facial dermal dysplasia type I	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Focal facial dermal dysplasia type I	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Focal facial dermal dysplasia type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Finding site	Skin structure	true	Inferred relationship	Some	2
Focal facial dermal dysplasia type I	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Focal facial dermal dysplasia type I	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3787366016	Focal facial dermal dysplasia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3787367013	Brauer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787368015	Focal facial dermal dysplasia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3787369011	Focal facial dermal dysplasia 1 Brauer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3787370012	Bitemporal aplasia cutis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3787374015	FFDD type 1 - focal facial dermal dysplasia type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787373014	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core