763748007: Isolated congenital adermatoglyphia (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Isolated congenital adermatoglyphia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Isolated congenital adermatoglyphia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated congenital adermatoglyphia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Isolated congenital adermatoglyphia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Isolated congenital adermatoglyphia
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Isolated congenital adermatoglyphia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated congenital adermatoglyphia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Isolated congenital adermatoglyphia

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643622014 Isolated congenital adermatoglyphia en Synonym Active Case insensitive SNOMED CT core

3643623016 Congenital absence of fingerprints en Synonym Active Case insensitive SNOMED CT core

3643624010 Isolated congenital adermatoglyphia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3643626012 Immigration delay disease en Synonym Active Case insensitive SNOMED CT core

3643625011 A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated congenital adermatoglyphia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Isolated congenital adermatoglyphia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Isolated congenital adermatoglyphia	Associated morphology	Absence	true	Inferred relationship	Some	1
Isolated congenital adermatoglyphia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Isolated congenital adermatoglyphia	Is a	Abnormal dermatoglyphic pattern	true	Inferred relationship	Some
Isolated congenital adermatoglyphia	Is a	Aplasia of skin	false	Inferred relationship	Some
Isolated congenital adermatoglyphia	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Isolated congenital adermatoglyphia	Is a	Congenital absence	false	Inferred relationship	Some
Isolated congenital adermatoglyphia	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Isolated congenital adermatoglyphia	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated congenital adermatoglyphia	Finding site	Entire dermatoglyphic patterns	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643622014	Isolated congenital adermatoglyphia	en	Synonym	Active	Case insensitive	SNOMED CT core
3643623016	Congenital absence of fingerprints	en	Synonym	Active	Case insensitive	SNOMED CT core
3643624010	Isolated congenital adermatoglyphia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643626012	Immigration delay disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3643625011	A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.	en	Definition	Active	Case sensitive	SNOMED CT core