FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 9p Occurrence True Congenital Inferred relationship Some 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 3p Occurrence True Congenital Inferred relationship Some 1
Brown oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Yellow mutant oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Cheilognathoschisis Occurrence True Congenital Inferred relationship Some 2
Orofaciodigital syndrome type 9 Occurrence True Congenital Inferred relationship Some 3
Minimal pigment oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Orofaciodigital syndrome type 11 Occurrence True Congenital Inferred relationship Some 3
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Maternal hyperthermia induced birth defect Occurrence False Congenital Inferred relationship Some 1
Tyrosinase-negative oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Distal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Some 1
Distal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Dyssegmental dysplasia Silverman Handmaker type Occurrence True Congenital Inferred relationship Some 1
Dyssegmental dysplasia Silverman Handmaker type Occurrence True Congenital Inferred relationship Some 2
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency Occurrence True Congenital Inferred relationship Some 1
X chromosome-linked pyridoxine responsive sideroblastic anaemia Occurrence True Congenital Inferred relationship Some 3
Occult spinal dysraphism sequence Occurrence True Congenital Inferred relationship Some 2
Oculocutaneous albinism type 5 Occurrence True Congenital Inferred relationship Some 2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Occurrence True Congenital Inferred relationship Some 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Occurrence False Congenital Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
8p23.1 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinism type 7 Occurrence True Congenital Inferred relationship Some 2
Oculocutaneous albinism type 6 Occurrence True Congenital Inferred relationship Some 2
Tyrosinase-positive oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Kandori fleck retina syndrome Occurrence False Congenital Inferred relationship Some 1
Constriction ring syndrome Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant oculocutaneous albinism Occurrence False Congenital Inferred relationship Some 1
X chromosome-linked pyridoxine refractory sideroblastic anaemia Occurrence True Congenital Inferred relationship Some 3
Rufous albinism Occurrence True Congenital Inferred relationship Some 1
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 5
Proximal 16p11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Hermansky-Pudlak syndrome Occurrence True Congenital Inferred relationship Some 1
Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinism type 1 Occurrence True Congenital Inferred relationship Some 2
Oculocutaneous albinism type 1 Occurrence False Congenital Inferred relationship Some 3
Oculocutaneous albinism type 1 Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Oculocutaneous albinism type 4 Occurrence True Congenital Inferred relationship Some 2
Cross syndrome Occurrence True Congenital Inferred relationship Some 3
Temperature-sensitive oculocutaneous albinism Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Occurrence True Congenital Inferred relationship Some 3
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Occurrence True Congenital Inferred relationship Some 2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
X chromosome-linked sideroblastic anaemia Occurrence True Congenital Inferred relationship Some 3
Congenital trigeminal anaesthesia Occurrence True Congenital Inferred relationship Some 2
Cross syndrome Occurrence True Congenital Inferred relationship Some 4
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Orofaciodigital syndrome type 11 Occurrence True Congenital Inferred relationship Some 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Oculocutaneous albinism type 5 Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinism type 7 Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinism type 6 Occurrence True Congenital Inferred relationship Some 1
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 4
Oculocutaneous albinism type 4 Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Orofaciodigital syndrome type 11 Occurrence False Congenital Inferred relationship Some 6
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
X-linked sideroblastic anaemia with spinocerebellar ataxia Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 4
Microblepharia Occurrence False Congenital Inferred relationship Some
Microdactyly Occurrence False Congenital Inferred relationship Some
Multiple congenital cardiac defects Occurrence False Congenital Inferred relationship Some
Multiple intracardiac shunts Occurrence False Congenital Inferred relationship Some
Muscular ventricular septum defect Occurrence False Congenital Inferred relationship Some
Myxoid transformation of tricuspid valve Occurrence False Congenital Inferred relationship Some
Neoplasm of uncertain behaviour of ectopic female breast tissue Occurrence False Congenital Inferred relationship Some
Neoplasm of uncertain behaviour of ectopic male breast tissue Occurrence False Congenital Inferred relationship Some
Congenital deformity of left lower limb Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right clavicle Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital deformity of lower limbs Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital deformity of lower limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital deformity fingers Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital deformity fingers Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of left clavicle Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right finger Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of left finger Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right hand Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital short achilles tendons Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital short achilles tendons Occurrence False Congenital Inferred relationship Some 3
Congenital deformity of right lower limb Occurrence True Congenital Inferred relationship Some 1
Carbamoyl-phosphate synthetase 1 deficiency Occurrence True Congenital Inferred relationship Some 1
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Some 3
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital short achilles tendons Occurrence True Congenital Inferred relationship Some 1
Waardenburg's syndrome Occurrence True Congenital Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence True Congenital Inferred relationship Some 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence False Congenital Inferred relationship Some 4

Start Previous Page 313 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start