719595002: Absence of fingerprints with congenital milia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Mass of body structure\Mass of body region\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\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\Absence of fingerprints with congenital milia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Skin finding\Mass of skin\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Absence of fingerprints with congenital milia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Absence of fingerprints with congenital milia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Absence of fingerprints with congenital milia syndrome
\Disease\Cyst\Keratinising cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Cyst\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Absence of fingerprints with congenital milia syndrome
\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\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Cutaneous cyst\Keratinising cyst of skin\Milia\Absence of fingerprints with congenital milia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Absence of fingerprints with congenital milia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Abnormal dermatoglyphic pattern\Absence of fingerprints with congenital milia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3317076011 Absence of fingerprints with congenital milia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3317077019 Absence of fingerprints with congenital milia syndrome en Synonym Active Case insensitive SNOMED CT core

3317078012 Absence of dermatoglyphics with congenital milia syndrome en Synonym Active Case insensitive SNOMED CT core

3317079016 Baird syndrome en Synonym Active Case sensitive SNOMED CT core

3317080018 This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Absence of fingerprints with congenital milia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Absence of fingerprints with congenital milia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Absence of fingerprints with congenital milia syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Absence of fingerprints with congenital milia syndrome	Associated morphology	Milium	true	Inferred relationship	Some	1
Absence of fingerprints with congenital milia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Is a	Abnormal dermatoglyphic pattern	true	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Is a	Aplasia of skin	false	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Is a	Milia	true	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Is a	Congenital absence	false	Inferred relationship	Some
Absence of fingerprints with congenital milia syndrome	Associated morphology	Milium	false	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Absence of fingerprints with congenital milia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Absence of fingerprints with congenital milia syndrome	Finding site	Structure of dermatoglyphic patterns	false	Inferred relationship	Some	3
Absence of fingerprints with congenital milia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Absence of fingerprints with congenital milia syndrome	Finding site	Structure of dermatoglyphic patterns	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

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3317076011	Absence of fingerprints with congenital milia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317077019	Absence of fingerprints with congenital milia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317078012	Absence of dermatoglyphics with congenital milia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317079016	Baird syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3317080018	This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core