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733469003: Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3499496014 Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3499497017 Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3499498010 Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499499019 Westerhof Beemer Cormane syndrome en Synonym Active Case sensitive SNOMED CT core
3500011014 A neurocutaneous syndrome with characteristics of congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Skin structure true Inferred relationship Some 2
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Pigment alteration true Inferred relationship Some 2
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Structure of nervous system true Inferred relationship Some 1
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Congenital anomaly of nervous system true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Structure of nervous system true Inferred relationship Some 3
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Neoplasm true Inferred relationship Some 3
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Neoplasm true Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Neurocutaneous syndrome true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a Genetic disorder of skin pigmentation true Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 3
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Skin structure true Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 5
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Skin structure false Inferred relationship Some 3
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Finding site Structure of nervous system false Inferred relationship Some 5
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology Pigment alteration false Inferred relationship Some 3
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

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