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774070008: Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3727872015 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3727873013 Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3727874019 Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Existential restriction modifier 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Congenital anomaly of central nervous system true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Syndactyly true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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