41086002: Congenital smallness (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital smallness	Is a	Congenital growth alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital smallness	Is a	Growth alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Pseudoprogeria syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Microcephalus, lymphoedema, chorioretinopathy syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus, digital anomaly, intellectual disability syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deficiency of leukotriene C4 synthase	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reconstruction of microtia with free flap (procedure)	Direct morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of microtia with free flap and microvascular anastomosis	Direct morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmic socket (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sporadic fetal brain disruption sequence	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oro-facial digital syndrome type 14 (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oro-facial digital syndrome type 14 (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Bilateral polymicrogyria (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalic primordial dwarfism Montreal type	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nijmegen breakage syndrome-like disorder	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus, brain defect, spasticity, hypernatremia syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalic primordial dwarfism Dauber type	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalic primordial dwarfism Alazami type	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Severe neonatal onset encephalopathy with microcephaly	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hall Riggs syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microtia	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SOX2 anophthalmia syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Jawad syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Juvenile cataract, microcornea, renal glucosuria syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microspherophakia (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmia with brain atrophy syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coxoauricular syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudoprogeria syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cataract and microcornea syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Radioulnar synostosis with microcephaly and scoliosis syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus cleft palate syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thickened earlobe with conductive deafness syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Micromelic spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly, seizure, intellectual disability, heart disease syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Filippi syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lowry MacLean syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short rib polydactyly syndrome Saldino Noonan type	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrosomia, microphthalmia, cleft palate syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of microtia with microvascular anastomosis (procedure)	Direct morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of microtia with flap	Direct morphology	False	Congenital smallness	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
68540011	Congenital smallness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777834016	Congenital smallness (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68540011	Congenital smallness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
68540011	Congenital smallness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777834016	Congenital smallness (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777834016	Congenital smallness (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core